DPSPDNT - Palestras
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Browsing DPSPDNT - Palestras by Author "Alves, Ana Catarina"
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- APOB Variants Spectrum and Functional Characterization in Portuguese Patients with Familial Hypercholesterolaemia PhenotypePublication . Ferreira, Maria Rafael Simões do Carmo; Alves, Ana Catarina; Rebelo, Maria TeresaFamilial hypercholesterolaemia (FH) is an autosomal semi dominant disorder of lipid metabolism clinically characterized by increased levels of circulating LDL cholesterol and associated with elevated cardiovascular risk. The genetic diagnosis is usually based on the analysis of LDLR, APOB, and PCSK9 genes. APOB variants are responsible for 5-10% of FH cases, and the variant spectrum of APOB has increased due to sequencing of the whole gene through Next Generation Sequencing, consequently increasing the number of variants that need to be functionally assessed. This dissertation aimed to verify the correlation between phenotype and genotype in individuals from the Portuguese FH Study, as well as create a database including all APOB variants found up to date in this study. Moreover, it was intended to characterize two APOB variants identified in subjects from this cohort. Graphics regarding LDL cholesterol levels were designed for index cases FH positive and negative and relatives FH positive. The variants previously detected by NGS were confirmed by PCR and Sanger sequencing, and cascade screening was carried out in families. All APOB variants with MAF <1% were gathered into a database. LDL from index cases and relatives was separated using sequential ultracentrifugation and labelled with FITC for uptake assessment by flow cytometry in CHO-ldlA7 cells, and proliferation assays were performed with U937 cells. A definite diagnosis was possible for 4 individuals carrying known pathogenic variants, and c.6639_6641del/p.(Asp2213del) and c.10121T>C/p.(Ile3374Thr) alterations from exon 26 were functionally assessed. In vitro studies showed a neutral effect on the apoB function for these variants. Furthermore, 143 different variants were discovered located throughout the whole gene, of which more than 90% were variants of uncertain significance. Functional studies, combined with the association between phenotype and genotype, allow a better and more personalized treatment according to the needs of each individual.
- Diagnóstico molecular de Dislipidémias FamiliaresPublication . Alves, Ana CatarinaThe familial dyslipidaemia are underdiagnosed and so it is necessary an effort from all health professional to identify these high risk patients in order to provide the best counseling and treatment to reduce their elevated cardiovascular(hepatic/neurologic) risk. A novel diagnosis method (by NGS) is being implemented in order to study a larger panel of genes for dyslipidaemia to improve patient diagnosis
- Functional genomics of Familial HypercholesterolemiaPublication . Alves, Ana CatarinaMain aim of the Portuguese Family Hypercholesterolemia study: to identify the cause of the dyslipidaemia in patients with a clinical phenotype of Familial Hypercholesterolaemia (FH).
- Prevalência de factores de risco numa população jovemPublication . Alves, Ana CatarinaPalestra sobre a prevalência de factores de risco numa população jovem, proferida no âmbito do Estudo de Prevenção Cardiovascular nas Escolas.